Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. (Record no. 26037112)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01638 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517095035.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201801s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2156 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/brain/aww115 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Mademan, Inès |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180131 |
| 245 00 - TITLE STATEMENT | |
| Title | Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Brain : a journal of neurology |
| Date of publication, distribution, etc. | 08 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e46 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Comment |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ataxia |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellar Ataxia |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harmuth, Florian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giordano, Ilaria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Timmann, Dagmar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magri, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deconinck, Tine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Claaßen, Jens |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jokisch, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Genc, Gencer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Bella, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romito, Silvia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schüle, Rebecca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Züchner, Stephan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taroni, Franco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klockgether, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schöls, Ludger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Jonghe, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bauer, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Consortium, Eoa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baets, Jonathan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Synofzik, Matthis |
| 773 0# - HOST ITEM ENTRY | |
| Title | Brain : a journal of neurology |
| Related parts | vol. 139 |
| -- | no. Pt 8 |
| -- | p. e46 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/brain/aww115">https://doi.org/10.1093/brain/aww115</a> |
| Public note | Available from publisher's website |
No items available.